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目的 :获取孕妇外周血中的极少量胎儿有核红细胞 (NRBC) ,并进行单个 NRBC的基因分析 ,探讨其在产前基因诊断中的价值。方法 :将孕妇外周血进行不连续密度梯度离心 ,将分离后的细胞进行制片 ,光学显微镜下识别 NRBC,然后用显微操作仪获取单个 NRBC进行引物延伸预扩增 (PEP)及 Y染色体特异性 DYZ1 基因的聚合酶链反应 (PCR) ,以确定其来源于胎儿。结果 :单个 NRBC的 PEP- PCR法检测结果 ,6 0 %检出 DYZ1 的特异性条带 ,而单用 PCR法则均未检出特异性 DYZ1 条带。结论 :用母血中单个胎儿 NRBC进行产前基因诊断是可行的。
OBJECTIVE: To obtain a small amount of fetal nucleated erythrocytes (NRBCs) in the peripheral blood of pregnant women and analyze the gene expression of a single NRBC in order to explore its value in prenatal genetic diagnosis. METHODS: The peripheral blood of pregnant women was subjected to discontinuous density gradient centrifugation. The isolated cells were made into pieces and identified under light microscope. Then, a single NRBC was obtained by micromanipulator for pre-amplification of primer extension (PEP) and Y chromosome-specific Sex DYZ1 gene by polymerase chain reaction (PCR) to determine its origin in the fetus. Results: The results of PEP-PCR assay of single NRBC showed that 60% of the specific bands of DYZ1 were detected, while none of the specific DYZ1 bands were detected by PCR alone. Conclusion: Prenatal genetic diagnosis using single fetus NRBC in maternal blood is feasible.